Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency

Pediatric Research

Volumn 60, Issue 3, 2006, Pages 321-326

  Reichenbach, Janine ^a,e   Schubert, Ralf ^a   Horvàth, Rita ^b   Petersen, Jens ^c   Fütterer, Nancy ^b   Malle, Elisabeth ^b   Stumpf, Andreas ^a   Gebhardt, Boris R ^a   Koehl, Ulrike ^a   Schraven, Burkhart ^d   Zielen, Stefan ^a  

^a GOETHE UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; CD45RO ANTIGEN; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; DEOXYGUANOSINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G1; IMMUNOGLOBULIN G2; IMMUNOGLOBULIN G3; IMMUNOGLOBULIN G4; IMMUNOGLOBULIN M; INTERLEUKIN 2; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); SUCCINYL COENZYME A SYNTHETASE; THYMIDINE PHOSPHORYLASE; UBIQUINOL CYTOCHROME C REDUCTASE;

ANEMIA; ARTICLE; CASE REPORT; CD8+ T LYMPHOCYTE; CLINICAL FEATURE; CORPUS CALLOSUM; ENZYME LINKED IMMUNOSORBENT ASSAY; FATALITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCEPHALUS; HYPOGAMMAGLOBULINEMIA; HYPOPLASIA; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYELINATION; NATURAL KILLER CELL; NERVE CONDUCTION; NOCICEPTION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYCYTHEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT INFECTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKELETAL MUSCLE; SYNDROME; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION; THROMBOCYTOPENIA;

CD8-POSITIVE T-LYMPHOCYTES; COMMON VARIABLE IMMUNODEFICIENCY; DNA, MITOCHONDRIAL; DYSGAMMAGLOBULINEMIA; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FATAL OUTCOME; HUMANS; IMMUNOGLOBULINS; INFANT; INFANT, NEWBORN; KILLER CELLS, NATURAL; LYMPHOCYTE SUBSETS; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; T-LYMPHOCYTES;

EID: 33747606236     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000233252.60457.cf     Document Type: Article

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